Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Definition
A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.
Also known as AD hyperimmunoglobulin E syndrome, AD-HIES, autosomal dominant HIES, autosomal dominant hyper IgE syndrome, autosomal dominant hyper-IgE syndrome, autosomal dominant hyperimmunoglobulin E syndrome, Buckley syndrome, HIES autosomal dominant, HIES, autosomal dominant, hyper Ig E syndrome, autosomal dominant, hyper-IgE recurrent infection syndrome, autosomal dominant, hyper-IgE syndrome, autosomal dominant, hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant, hyperimmunoglobulin E syndrome type 1, immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist, JOB syndrome, Job syndrome autosomal dominant, Job's syndrome, STAT3 deficiency — per MONDO